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Year	Number of Results
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19 results

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Facial Bone Defects Associated with Lateral Facial Clefts Tessier Type 6, 7 and 8 in Syndromic Neurocristopathies: A Detailed Micro-CT Analysis on Historical Museum Specimens.

Behunova J, Rehder H, Dobsak A, Kircher SG, Boer LL, Mueller AA, Patsch JM, Winter E, Oostra RJ, Piehslinger E, Reich KM. Behunova J, et al. Biology (Basel). 2025 Jul 17;14(7):872. doi: 10.3390/biology14070872. Biology (Basel). 2025. PMID: 40723430 Free PMC article.

Stone Babies: A Pictorial Essay With Insights From 25 Museal Lithopaedions.

Boer LL, Wasserscheid A, Winter E, de Rooy L, Schepens-Franke AN, Magno G, Cusan A, Rehder H, Behunova J, Scharrer A, Lobé N, Peloschek P, Oostra RJ, Kircher SG. Boer LL, et al. Birth Defects Res. 2024 Nov;116(11):e2410. doi: 10.1002/bdr2.2410. Birth Defects Res. 2024. PMID: 39482277

History and highlights of the teratological collection in the Narrenturm, Vienna (Austria).

Boer LL, Kircher SG, Rehder H, Behunova J, Winter E, Ringl H, Scharrer A, de Boer E, Oostra RJ. Boer LL, et al. Am J Med Genet A. 2023 May;191(5):1301-1324. doi: 10.1002/ajmg.a.63153. Epub 2023 Feb 20. Am J Med Genet A. 2023. PMID: 36806455

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

Tallgren A, Kager L, O'Grady G, Tuominen H, Körkkö J, Kuismin O, Feucht M, Wilson C, Behunova J, England E, Kurki MI, Palotie A, Hallman M, Kaarteenaho R, Laccone F, Boztug K, Hinttala R, Uusimaa J. Tallgren A, et al. Front Neurosci. 2023 Apr 27;17:1123327. doi: 10.3389/fnins.2023.1123327. eCollection 2023. Front Neurosci. 2023. PMID: 37179546 Free PMC article.

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations.

Rehder H, Kircher SG, Schoner K, Smogavec M, Behunova J, Ihm U, Plassmann M, Hofer M, Ringl H, Laccone F. Rehder H, et al. Orphanet J Rare Dis. 2023 Mar 16;18(1):57. doi: 10.1186/s13023-023-02617-5. Orphanet J Rare Dis. 2023. PMID: 36927364 Free PMC article.

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.

Smogavec M, Gerykova Bujalkova M, Lehner R, Neesen J, Behunova J, Yerlikaya-Schatten G, Reischer T, Altmann R, Weis D, Duba HC, Laccone F. Smogavec M, et al. Eur J Hum Genet. 2022 Apr;30(4):428-438. doi: 10.1038/s41431-021-01012-7. Epub 2022 Jan 1. Eur J Hum Genet. 2022. PMID: 34974531 Free PMC article.

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

Nagy D, Verheyen S, Wigby KM, Borovikov A, Sharkov A, Slegesky V, Larson A, Fagerberg C, Brasch-Andersen C, Kibæk M, Bader I, Hernan R, High FA, Chung WK, Schieving JH, Behunova J, Smogavec M, Laccone F, Witsch-Baumgartner M, Zobel J, Duba HC, Weis D. Nagy D, et al. Genes (Basel). 2022 Jan 15;13(1):154. doi: 10.3390/genes13010154. Genes (Basel). 2022. PMID: 35052493 Free PMC article.

Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern.

Schoner K, Witsch-Baumgartner M, Behunova J, Petrovic R, Bald R, Kircher SG, Ramaswamy A, Kluge B, Meyer-Wittkopf M, Schmitz R, Fritz B, Zschocke J, Laccone F, Rehder H. Schoner K, et al. Birth Defects Res. 2020 Jan 15;112(2):175-185. doi: 10.1002/bdr2.1620. Epub 2019 Dec 16. Birth Defects Res. 2020. PMID: 31840946 Free PMC article.

Bone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola disease.

Shboul M, Roschger P, Ganger R, Paschalis L, Rokidi S, Zandieh S, Behunova J, Muschitz C, Fahrleitner-Pammer A, Ng AYJ, Tohari S, Venkatesh B, Bonnard C, Reversade B, Klaushofer K, Al Kaissi A. Shboul M, et al. Bone. 2019 Jun;123:48-55. doi: 10.1016/j.bone.2018.10.008. Epub 2018 Oct 11. Bone. 2019. PMID: 30316000

Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature.

Behunova J, Gerykova Bujalkova M, Gras G, Taylor T, Ihm U, Kircher S, Rehder H, Laccone F. Behunova J, et al. Mol Syndromol. 2019 Jan;9(6):287-294. doi: 10.1159/000494451. Epub 2018 Nov 13. Mol Syndromol. 2019. PMID: 30800044 Free PMC article.

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